Mediterranean macrothrombocytopenia

General Information (adopted from Orphanet):

Synonyms, Signs: PHYTOSTEROLEMIA MACROTHROMBOCYTOPENIA/STOMATOCYTOSIS, MEDITERRANEAN, INCLUDED
STSL
Number of Symptoms 27
OrphanetNr: 101022
OMIM Id: 210250
ICD-10: D69.1
UMLs: C0272281
MeSH:
MedDRA:
Snomed: 60628003

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Inherited giant platelet disorder
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
(HPO:0001369) Arthritis 44 / 7739
2
(HPO:0002829) Arthralgia 79 / 7739
3
(HPO:0002027) Abdominal pain 184 / 7739
4
(HPO:0001744) Splenomegaly 337 / 7739
5
(HPO:0001392) Abnormality of the liver 28 / 7739
6
(HPO:0001574) Abnormality of the integument 4 / 7739
7
(HPO:0004929) Coronary atherosclerosis 4 / 7739
8
(HPO:0002621) Atherosclerosis 33 / 7739
9
(HPO:0001923) Reticulocytosis 28 / 7739
10
(HPO:0004446) Stomatocytosis 11 / 7739
11
(HPO:0004802) Episodic hemolytic anemia 2 / 7739
12
(HPO:0004870) Chronic hemolytic anemia 6 / 7739
13
(HPO:0003540) Impaired platelet aggregation 17 / 7739
14
(HPO:0001928) Abnormality of coagulation 44 / 7739
15
(HPO:0001872) Abnormality of thrombocytes 20 / 7739
16
(HPO:0001902) Giant platelets 11 / 7739
17
(HPO:0001892) Abnormal bleeding 85 / 7739
18
(HPO:0008158) Hyperapobetalipoproteinemia 2 / 7739
19
(HPO:0003124) Hypercholesterolemia 53 / 7739
20
(OMIM) Elevated plasma beta-sitosterol (sitosterolemia or phytosterolemia) 2 / 7739
21
(OMIM) Elevated plasma campesterol 2 / 7739
22
(OMIM) Elevated plasma stigmasterol 2 / 7739
23
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
24
(OMIM) Tendinous and tuberous xanthoma 2 / 7739
25
(OMIM) Microsomal HMG-CoA reductase decreased 2 / 7739
26
(OMIM) Joint arthralgia 2 / 7739
27
(OMIM) Cholesterol biosynthesis severely depressed 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Sitosterolemia, also known as phytosterolemia, is an autosomal recessive metabolic condition characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules, such as sitosterol. Patients with this disorder have very high levels of plant sterols in ...
Clinical Description OMIM Bhattacharyya and Connor (1974) described 2 intellectually normal sisters of German and German-Swiss ancestry with tendinous and tuberous xanthoma and elevation of beta-sitosterol and 2 other plant sterols, campesterol and stigmasterol, in the blood. The authors proposed abnormally ...
Molecular genetics OMIM Berge et al. (2000) identified homozygosity or compound heterozygosity for several mutations in 2 adjacent, oppositely oriented genes that encode members of the adenosine triphosphate (ATP)-binding cassette (ABC) transporter family, ABCG8 (see 605460.0001-605460.0008) and ABCG5 (see 605459.0001), in ...
Population genetics OMIM In a Swiss woman with sitosterolemia who had typical xanthomas and also mitral and aortic valvular disease, Solca et al. (2005) identified homozygosity for the G574R mutation in the ABCG8 gene (605460.0002). Extended haplotype analysis of this patient ...